Case Rep Ophthalmol 2019;10:424–430
Case Presentation
The patient was the second daughter of nonconsanguineous Caucasian parents. Her mother was 30 years old and her father was 35 years old. There was no known exposure to any teratogens. The mother was diagnosed with pregnancy diabetes and treated with insulin. Fetal ultrasound at the 32nd gestational week showed intrauterine growth retardation without other associated findings. It was repeated at the 35th gestational week, detecting microcephaly, ventricular dysmorphism, and cerebellar hypoplasia. The child was born at 38 gestational weeks via normal spontaneous delivery, with an APGAR score of 7 and 8 at 1 and 5 min after birth, respectively. Birth weight was 2,172 g (<3rd percentile), length was 44.9 cm (<3rd percentile), and cranial circumference was 29.9 cm (<3rd percentile). Brain magnetic resonance imaging after 7 days showed enlargement of the periencephalic subarachnoid spaces, both under and over the tentorium, ventriculomegaly, almost complete corpus callosum agenesis, and cerebellar hemispheres and vermis hypoplasia. Porencephalic areas, delimited by hyperintense edges on T2-weighted images and hypointense edges on T1-weighted images, were observed in the cerebral parenchyma, and they were determined to be of hemorrhagic origin. Gyri defects with bilateral frontal and temporal lissencephaly were also present (Fig. 1). One month later, a computed tomography scan was performed which revealed cortical and subcortical diffuse periventricular calcifications (Fig. 2).
Fig. 1.
a, b Brain magnetic resonance imaging showing optic nerve hypoplasia and almost complete corpus callosum.
Fig. 2.
Computed tomography scan showing subcortical diffuse periventricular calcifications.
At birth the girl presented slight muscular hypertonia which evolved into a spastic tetraparesis in the following months. At 6 months of age the infant presented episodes of seizures which were treated with antiepileptic medical therapy, achieving good control with no relapses.
At 5 days of age, ophthalmological examination detected marked hypoplasia of the optic nerve at the fundus oculi, while no anomalies of the anterior segment were observed (Fig. 3). At 6 months of age an ophthalmological reevaluation identified a nuclear cataract (Fig. 4) that prevented evaluation of the fundus oculi. The child underwent bilateral cataract extraction, without intraocular lens implantation, and anterior vitrectomy with capsulotomy by vitrectome, with an uncomplicated postoperative course. One week after surgery she developed increased intraocular pressure in the left eye, resistant to medical therapy, and 1 month later the right eye developed a pupillary membrane. Transconjunctival laser cyclophotocoagulation was performed on 360° in the left eye and the pupillary membrane was removed in the right eye. Subsequently, intraocular pressure in the left eye normalized with topical therapy and the optical axis of the right eye was free. Despite optical correction with positive lenses, visual acuity remained uncertain light perception in both eyes after the second surgery.
Fig. 3.
a, b Hypoplasia of the optic nerve head.
Fig. 4.
a, b Bilateral nuclear cataract before surgery.
Considering the patient’s clinical manifestations, sequencing of the COL4A1 gene was performed. The test results were positive for the heterozygous mutation c.2716+2T>C, which affects a consensus sequence for splicing. Both mother and father were negative for mutation.
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